Search results for "variant"
showing 10 items of 1267 documents
SIFT Texture Description for Understanding Breast Ultrasound Images
2014
Texture is a powerful cue for describing structures that show a high degree of similarity in their image intensity patterns. This paper describes the use of Self-Invariant Feature Transform (SIFT), both as low-level and high-level descriptors, applied to differentiate the tissues present in breast US images. For the low-level texture descriptors case, SIFT descriptors are extracted from a regular grid. The high-level texture descriptor is build as a Bag-of-Features (BoF) of SIFT descriptors. Experimental results are provided showing the validity of the proposed approach for describing the tissues in breast US images.
Large-Scale Candidate Gene Analysis in Whites and African Americans Identifies IL6R Polymorphism in Relation to Atrial Fibrillation The National Hear…
2011
Background— The genetic background of atrial fibrillation (AF) in whites and African Americans is largely unknown. Genes in cardiovascular pathways have not been systematically investigated. Methods and Results— We examined a panel of approximately 50 000 common single-nucleotide polymorphisms (SNPs) in 2095 cardiovascular candidate genes and AF in 3 cohorts with participants of European (n=18 524; 2260 cases) or African American descent (n=3662; 263 cases) in the National Heart, Lung, and Blood Institute's Candidate Gene Association Resource. Results in whites were followed up in the German Competence Network for AF (n=906, 468 cases). The top result was assessed in relation to incident i…
New loci associated with kidney function and chronic kidney disease
2010
Chronic kidney disease (CKD) is a significant public health problem, and recent genetic studies have identified common CKD susceptibility variants. The CKDGen consortium performed a meta-analysis of genome-wide association data in 67,093 individuals of European ancestry from 20 predominantly population-based studies in order to identify new susceptibility loci for reduced renal function as estimated by serum creatinine (eGFRcrea), serum cystatin c (eGFRcys) and CKD (eGFRcrea 60 ml/min/1.73 m 2; n = 5,807 individuals with CKD (cases)). Follow-up of the 23 new genome-wide-significant loci (P 5 × 10 8) in 22,982 replication samples identified 13 new loci affecting renal function and CKD (in or…
Pharmacogenetics in Neuroblastoma: What Can Already Be Clinically Implemented and What Is Coming Next?
2021
Pharmacogenetics is one of the cornerstones of Personalized Precision Medicine that needs to be implemented in the routine of our patients’ clinical management in order to tailor their therapies as much as possible, with the aim of maximizing efficacy and minimizing toxicity. This is of great importance, especially in pediatric cancer and even more in complex malignancies such as neuroblastoma, where the rates of therapeutic success are still below those of many other types of tumors. The studies are mainly focused on germline genetic variants and in the present review, state of the art is presented: which are the variants that have a level of evidence high enough to be implemented in the c…
PPAR alpha gene variants as predicted performance-enhancing polymorphisms in professional Italian soccer players
2014
Patrizia Proia,1 Antonino Bianco,1 Gabriella Schiera,2 Patrizia Saladino,2 Valentina Contrò,1 Giovanni Caramazza,3 Marcello Traina,1 Keith A Grimaldi,4 Antonio Palma,1 Antonio Paoli5 1Sport and Exercise Sciences Research Unit, 2Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy; 3Regional Sports School of CONI Sicilia, Sicily, Italy; 4Biomedical Engineering Laboratory, Institute of Communication and Computer Systems, National Technical University of Athens, Athens, Greece; 5Department of Biomedical Sciences, University of Padova, Padua, Italy Background: The PPARα gene encodes the peroxisome proliferato…
Posterior variant of alien limb syndrome with sudden clinical onset as self-hitting associated with thalamic stroke
2020
We present a case of sudden postischaemic onset of alien limb syndrome, with unintentional self-injury. Alien limb syndrome is an uncommon neurological disorder featured by uncontrolled and involuntary movements of a limb. Three variants of alien limb syndrome have been described: the anterior, featured by grasping of surrounding objects, the callosal, presenting with intermanual conflict, and the posterior, associated with involuntary levitation of the limb. Our patient suffered from an acute presentation of the posterior variant of the alien limb syndrome, resulting from an isolated thalamic stroke which was documented using 24-h computed tomography brain scan. Only one previous case of a…
PGC-1 isoforms and their target genes are expressed differently in human skeletal muscle following resistance and endurance exercise
2015
The primary aim of the present study was to investigate the acute gene expression responses of PGC-1 isoforms and PGC-1a target genes related to mitochondrial biogenesis (cytochrome C), angiogenesis (VEGF-A), and muscle hypertrophy (myostatin), after a resistance or endurance exercise bout. In addition, the study aimed to elucidate whether the expression changes of studied transcripts were linked to phosphorylation of AMPK and MAPK p38. Nineteen physically active men were divided into resistance exercise (RE, n = 11) and endurance exercise (EE, n = 8) groups. RE group performed leg press exercise (10 9 10 RM, 50 min) and EE walked on a treadmill (~80% HRmax, 50 min). Muscle biopsies were ob…
Human Papillomavirus (HPV) Detection in Keratotic Variants of Oral Lichen Planus: Negative Results in a Preliminary Open Study
2017
Background During the last few decades, several researches have been identified HPV genomic sequences in Head Neck Squamous Cell Carcinomas (HNSCC) and in Oral Potentially Malignant Disorders (OPMD) hypothesizing a possible viral etiological role. However, the reported prevalence of HPV-DNA (varying from 0% to 100%) in these lesions result still very discordant. Objective Human papillomavirus (HPV) infection in Oral Lichen Planus (OLP) has been largely investigated but not so extensively with respect to its morphological/histopathological features. The possible influence of hyper-keratosis/parakeratosis in HPV detection for keratotic variants of OLP is here proposed and investigated. Materi…
Congenital myopathy and epidermolysis bullosa due to PLEC variant
2021
Abstract We report on an adult Turkish patient with mild myopathy with a fiber-type disproportion and mitochondrial disorganization caused by genetic variants in the plectin gene (PLEC). Molecular genetic panel testing revealed two homozygous variants in PLEC (NM_000445.4): c.8306C>G (p.Pro2769Arg) and c.7506 + 5C>G (p. ?) that were classified as variants of unknown significance (class 3) following ACMG guidelines for variant classification in genetic diagnostics. A thorough reassessment of the patient revealed mild skin blistering (epidermolysis bullosa simplex, EBS). This illustrates the importance of deep phenotyping of neuromuscular patients.
Increase in viral gastroenteritis outbreaks in Europe and epidemic spread of new norovirus variant.
2004
Background Highly publicised outbreaks of norovirus gastroenteritis in hospitals in the UK and Ireland and cruise ships in the USA sparked speculation about whether this reported activity was unusual. Methods We analysed data collected through a collaborative research and surveillance network of viral gastroenteritis in ten European countries (England and Wales were analysed as one region). We compiled data on total number of outbreaks by month, and compared genetic sequences from the isolated viruses. Data were compared with historic data from a systematic retrospective review of surveillance systems and with a central database of viral sequences. Findings Three regions (England and Wales,…